Diagnostic tests
• FISH
• Karyotype
• Microarray
• Single-gene sequencing
• Multi-gene sequencing
• Whole-exome sequencing
For families who choose not to pursue prenatal diagnostic testing or for babies born without a prenatal diagnosis , Children ’ s Colorado offers an on-call team of genetic and metabolic physicians , nurses and a genetic counselor who can coordinate postnatal genetic evaluations . This team provides some of the most comprehensive and rapid genetic tests available , including rapid whole-genome sequencing . If a genetic diagnosis is established , this information can help guide care . If a genetic diagnosis is not identified , the team remains available to help coordinate further testing or future follow-ups .
Genetic diagnoses since 2011
• 22q11.2 deletion syndrome
• Achondroplasia
• Apert syndrome
• Autosomal recessive polycystic kidney disease
• CHARGE syndrome
• Chromosomal deletions and duplications
• Congenital disorders of glycosylation
• Cri-du-Chat syndrome
• Cystic fibrosis
• Down syndrome
• HNF1B-related kidney disease
• Hypochondroplasia
• L1CAM associated hydrocephalus
• Noonan syndrome
• Osteogenesis imperfecta
• Pallister-Killian syndrome
• PIK3CA-related overgrowth disorder
• Prader-Willi syndrome
• Takenouchi-Kosaki syndrome
• TARP syndrome
• Tetrasomy 18p
• Tetrasomy 9p
• Trisomy 13
• Trisomy 18
• Tuberous sclerosis complex
• Turner syndrome
• VACTERL association
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